Genome Russia project - aims and approaches

Vladimir Brukhin

Dobrzhansky Center for Genome Bioinformatics, Saint Petersburg State University

Currently in the advent of postgenomic era, genetic variation in people is being studied across multiple varied world populations since the first human genome sequence appeared in 2001. However, these efforts have yet to produce a comprehensive mapping of humankind, because important regions of modern human civilization remain unexplored. The Genome Russia Project mission is to fill one of the largest gaps, the expansive regions across the Russian Federation, informing not just medical genomics of the territories, but also the ways of migration and settlements of historic and pre-historic Eurasian peoples [1, 2]. Way of the human DNA sampling is very important. To get a fine-scale genetic variation between populations is important as a signature of historical demographic events and because of its potential for confounding disease studies [3]. We are going to use haplotype-based statistical methods to analyse genome-wide single nucleotide variants (SNV), copy number variants (CNV), repeats, InDels, and syntheny blocks search data from a carefully chosen geographically diverse sample of around 2,500 individuals from the whole territory of the Russian Federation. We collect blood samples from family trios (both biological parents and adult children) to identify frequency of haplotypes recombination intrinsic to a particular ethnic and geographic population. The strategy of populations selection, sample collection, and aims of the project will be discussed.

Vladimir Brukhin

Vladimir Brukhin is a Leading Researcher at the Theodosius Dobzhansky Center for Genome Bioinformatics. His main research interests are in the field of functional genetics, comparative genomics, epigenetics, sexual and asexual plant reproduction, developmental biology and evolution. Currently Dr. Brukhin coordinates the project Genome Russia (http://genomerussia.bio.spbu.ru/?lang=en) main goal of which is creation of the web-based database containing depersonalised information on the whole-genome sequences of at least 2,500 men and women originating from the different regions of Russia, whose ancestors were indigenous to the region for several generations, as well as description of the genome variations in these groups, detection of the features that affect the spread of diseases and creation of a database of medically-relevant genomic variants characteristic to the Russian population. Other projects supervised by Dr. Brukhin are carried out in the frames of 3 year Swiss-Russian collaboration program “Sequencing, Assembly, and Annotation of the Highly Heterozygous Genome of the Apomictic Plant Boechera divaricarpa” and 2-year Russian-Indian program “Fixing hybrid vigor by asexual reproduction-A chemical genetics screen towards harnessing apomixis in flowering plants”. Main goal of the both projects is a better understanding of the molecular basis of apomixis the asexual reproduction of plants through seed, that could become a key ‘enabling technology’ of immense benefit to agriculture, because it would enable the permanent fixation of heterosis in crop plants. Also Dr. Brukhin develops the project “Whole genome methylation analysis in species-specific phenotypes and at the various developmental stages”.

Dr. Brukhin received his Master in Agricultural Chemistry in 1988 from the faculty of Biology and Soil Science, St. Petersburg State University. In 1993 he earned a Ph.D. in Developmental Biology from Komarov Botanical Institute, Russian Academy of Sciences. In 1994 – Dr. Brukhin worked as a trainee at the University of Lublin in Poland where he studied plant developmental biology and microscopy. In 1996-1997 he worked on probation at the Wageningen Agricultural University (Netherlands). In 1997-1999 he was a postdoctoral researcher in France and Sweden studying somatic embryogenesis, apoptosis and genes specifically expressed during and after fertilization. In 2000-2006 he worked as a Senior Research Associate at the Department of Plant Developmental Genetics, University of Zurich, Switzerland, where he was responsible for co-ordinating the lab contributions to the multinational EU project EXOTIC (Exon Trapping Insert Consortium) and also he developed an independent research project ‘The Ubiquitin 26S Proteasome Proteolytic Pathway and Plant Reproduction’. At the University of Zurich Dr. Brukhin was a practical instructor for Plant Developmental Biology. In 2006-2007 he was invited to the University of Illinois at Urbana-Champaign to participate in the project on developmental aspects of posttranslational protein modifications. In 2008-2013 Dr. Brukhin worked in the UK (University of Aberystwyth and University of Edinburgh) where he studied epigenetics, problems of plant cell identity and specialization. In the UK he was also involved in tuition and supervision of undergraduate and PhD students.